distal myopathies การใช้

In Japan and many East Asian countries, this disorder is known as Distal Myopathy with Rimmed Vacuoles ( DMRV ).
A defect in the DYSF gene, located on chromosome 2p12-14, results in several types of muscular dystrophy; including Miyoshi myopathy ( MM ), Limb-girdle muscular dystrophy type 2B ( LGMD2B ) and Distal Myopathy ( DM ).
Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C ( LGMD-1C ), HyperCKemia, distal myopathy or rippling muscle disease ( RMD ).
They are Welander s distal myopathy, Finnish ( tibial ) distal myopathy, Miyoshi distal myopathy, Nonaka distal myopathy, Gowers-Laing distal myopathy, Hereditary inclusion-body myositis type 1, Distal myopathy with vocal cord and pharyngeal weakness, and ZASP-related myopathy.
They are Welander s distal myopathy, Finnish ( tibial ) distal myopathy, Miyoshi distal myopathy, Nonaka distal myopathy, Gowers-Laing distal myopathy, Hereditary inclusion-body myositis type 1, Distal myopathy with vocal cord and pharyngeal weakness, and ZASP-related myopathy.